These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

198 related articles for article (PubMed ID: 37456659)

  • 1. A novel
    Miao M; Feng L; Wang J; Xu C; Su X; Zhang G; Lu S
    Front Genet; 2023; 14():1207772. PubMed ID: 37456659
    [No Abstract]   [Full Text] [Related]  

  • 2. A Potential Therapy Using Antisense Oligonucleotides to Treat Autosomal Recessive Polycystic Kidney Disease.
    Li H; Wang C; Che R; Zheng B; Zhou W; Huang S; Jia Z; Zhang A; Zhao F; Ding G
    J Clin Med; 2023 Feb; 12(4):. PubMed ID: 36835961
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Novel compound heterozygous PKHD1 mutations cause autosomal recessive polycystic kidney disease in a Han Chinese family.
    Wang J; Qi D; Yang J; Zhang D; Wang Q; Ju X; Zhong X
    Mol Med Rep; 2019 Dec; 20(6):5059-5063. PubMed ID: 31638247
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Identification of deleterious variants in nine polycystic kidney disease affected families.
    Yuan J; Shao Z; Lv M; Li K; Wei Z
    Gene; 2024 Aug; 919():148505. PubMed ID: 38670396
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A rare deep intronic mutation of PKHD1 gene, c.8798-459 C > A, causes autosomal recessive polycystic kidney disease by pseudoexon activation.
    Chen J; Ma N; Zhao X; Li W; Zhang Q; Yuan S; Tan YQ; Lu G; Lin G; Du J
    J Hum Genet; 2019 Mar; 64(3):207-214. PubMed ID: 30617278
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A Deep Intronic PKHD1 Variant Identified by SpliceAI in a Deceased Neonate With Autosomal Recessive Polycystic Kidney Disease.
    Richter F; Rutherford KD; Cooke AJ; Meshkati M; Eddy-Abrams V; Greene D; Kosowsky J; Park Y; Aggarwal S; Burke RJ; Chang W; Connors J; Giannone PJ; Hays T; Khattar D; Polak M; Senaldi L; Smith-Raska M; Sridhar S; Steiner L; Swanson JR; Tauber KA; Barbosa M; Guttmann KF; Turro E
    Am J Kidney Dis; 2024 Jun; 83(6):829-833. PubMed ID: 38211685
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Clinical and genetic characteristics of autosomal recessive polycystic kidney disease in Oman.
    Al Alawi I; Molinari E; Al Salmi I; Al Rahbi F; Al Mawali A; Sayer JA
    BMC Nephrol; 2020 Aug; 21(1):347. PubMed ID: 32799815
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Intragenic motifs regulate the transcriptional complexity of Pkhd1/PKHD1.
    Boddu R; Yang C; O'Connor AK; Hendrickson RC; Boone B; Cui X; Garcia-Gonzalez M; Igarashi P; Onuchic LF; Germino GG; Guay-Woodford LM
    J Mol Med (Berl); 2014 Oct; 92(10):1045-56. PubMed ID: 24984783
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Clinical features of autosomal recessive polycystic kidney disease in the Japanese population and analysis of splicing in PKHD1 gene for determination of phenotypes.
    Ishiko S; Morisada N; Kondo A; Nagai S; Aoto Y; Okada E; Rossanti R; Sakakibara N; Nagano C; Horinouchi T; Yamamura T; Ninchoji T; Kaito H; Hamada R; Shima Y; Nakanishi K; Matsuo M; Iijima K; Nozu K
    Clin Exp Nephrol; 2022 Feb; 26(2):140-153. PubMed ID: 34536170
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Identification of a Splicing Variant c.3813-3A>G in NPHP3 by Reanalysis of Whole Exome Sequencing in a Chinese Boy with Nephronophthisis.
    Zhang X; Zhi X; Wang X; Dong Y; Shu J; Wang W; Cai C
    Nephron; 2023; 147(9):572-582. PubMed ID: 36878198
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Exome sequencing identifies compound heterozygous PKHD1 mutations as a cause of autosomal recessive polycystic kidney disease.
    Zhang D; Lu L; Yang HB; Li M; Sun H; Zeng ZP; Li XP; Xia WB; Xing XP
    Chin Med J (Engl); 2012 Jul; 125(14):2482-6. PubMed ID: 22882926
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [Gene variant analysis of a fetus with autosomal recessive polycystic kidney disease].
    Yu X; Li S; Liu F; Liu L; Zhang H
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Oct; 37(10):1143-1145. PubMed ID: 32924121
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A novel mutation identified in PKHD1 by targeted exome sequencing: guiding prenatal diagnosis for an ARPKD family.
    Xu Y; Xiao B; Jiang WT; Wang L; Gen HQ; Chen YW; Sun Y; Ji X
    Gene; 2014 Nov; 551(1):33-8. PubMed ID: 25153916
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Compound heterozygous PKHD1 variants cause a wide spectrum of ductal plate malformations.
    Courcet JB; Minello A; Prieur F; Morisse L; Phelip JM; Beurdeley A; Meynard D; Massenet D; Lacassin F; Duffourd Y; Gigot N; St-Onge J; Hillon P; Vanlemmens C; Mousson C; Cerceuil JP; Guiu B; Thevenon J; Thauvin-Robinet C; Jacquemin E; Rivière JB; Michel-Calemard L; Faivre L
    Am J Med Genet A; 2015 Dec; 167A(12):3046-53. PubMed ID: 26385851
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Use of patient derived urine renal epithelial cells to confirm pathogenicity of PKHD1 alleles.
    Molinari E; Srivastava S; Dewhurst RM; Sayer JA
    BMC Nephrol; 2020 Oct; 21(1):435. PubMed ID: 33059616
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Next generation sequencing identifies WNT signalling as a significant pathway in Autosomal Recessive Polycystic Kidney Disease (ARPKD) manifestation and may be linked to disease severity.
    Richards T; Wilson P; Goggolidou P
    Biochim Biophys Acta Mol Basis Dis; 2024 Jun; 1870(7):167309. PubMed ID: 38885798
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Functional analysis of PKHD1 splicing in autosomal recessive polycystic kidney disease.
    Bergmann C; Frank V; Küpper F; Schmidt C; Senderek J; Zerres K
    J Hum Genet; 2006; 51(9):788-793. PubMed ID: 16897190
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Clinical feature and genetic analysis of a fetus with autosomal recessive polycystic kidney disease].
    Xyu S; Xyu C; Lyu Y; Li C; Liu C
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Sep; 38(9):880-883. PubMed ID: 34487536
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Phenotype and genetic analysis of three patients with PKHD1 associated autosomal recessive polycystic kidney disease at childhood, teenage and advanced age].
    Wu Q; Wang C; Yang S; Shi H; Ma X; Kong X; Ren S; Jiao Z; Zhai Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Dec; 36(12):1153-1157. PubMed ID: 31813136
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Next-generation sequencing for molecular diagnosis of autosomal recessive polycystic kidney disease.
    Edrees BM; Athar M; Al-Allaf FA; Taher MM; Khan W; Bouazzaoui A; Al-Harbi N; Safar R; Al-Edressi H; Alansary K; Anazi A; Altayeb N; Ahmed MA; Abduljaleel Z
    Gene; 2016 Oct; 591(1):214-226. PubMed ID: 27401137
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.